Canonical Allele Identifier: CA490014451

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704775G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412578G>C , CM000677.2:g.48412578G>C	GRCh38
NC_000015.9:g.48704775G>C , CM000677.1:g.48704775G>C	GRCh37
NC_000015.8:g.46492067G>C	NCBI36
NG_008805.2:g.238211C>G , LRG_778:g.238211C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1025C>G	ENSP00000453958.2:n.*1025C>G
ENST00000674301.2:c.*1730C>G	ENSP00000501333.2:n.*1730C>G
ENST00000682158.1:n.1598C>G
ENST00000682170.1:n.2398C>G
ENST00000682767.1:n.1514C>G
ENST00000316623.10:c.8217C>G MANE Select	ENSP00000325527.5:p.Ser2739=
ENST00000674301.1:c.3383C>G	ENSP00000501333.1:n.3383C>G
ENST00000316623.9:c.8217C>G	ENSP00000325527.5:p.Ser2739=
ENST00000559133.5:c.3586C>G
ENST00000561429.1:n.472C>G
NM_000138.4:c.8217C>G , LRG_778t1:c.8217C>G	NP_000129.3:p.Ser2739=
NM_000138.5:c.8217C>G MANE Select	NP_000129.3:p.Ser2739=